Two 46,XX,t(X;Y) females with linear skin defects and congenital microphthalmia: a new syndrome at Xp22.3.
Open Access
- 1 January 1990
- journal article
- research article
- Published by BMJ in Journal of Medical Genetics
- Vol. 27 (1) , 59-63
- https://doi.org/10.1136/jmg.27.1.59
Abstract
We describe two females with de novo X;Y translocations, who presented at birth with irregular linear areas of erythematous skin hypoplasia involving the head and neck, along with eye findings that included microphthalmia, corneal opacities, and orbital cysts. The features in these children are similar to but distinct from those seen in females with Goltz syndrome and incontinentia pigmenti. Cytogenetic analysis has shown the X chromosome breakpoint in both females to be at Xp22.3. We suggest that this syndrome is the result of a deletion or disruption of DNA sequences in the region of Xp22.3.Keywords
This publication has 11 references indexed in Scilit:
- De novo deletion of Xp22.2-pter in a female with linear skin lesions of the face and neck, microphthalmia, and anterior chamber eye anomalies.Journal of Medical Genetics, 1990
- X/Y translocation in a family with X‐linked ichthyosis, chondrodysplasia punctata, and mental retardation: DNA analysis reveals deletion of the steroid sulphatase gene and translocation of its Y pseudogeneClinical Genetics, 1988
- The gene for incontinentia pigmenti: failure of linkage studies using DNA probes to confirm cytogenetic localizationClinical Genetics, 1988
- Gene for incontinentia pigmenti maps to band Xp11 with an (X;10) (p11;q22) translocationClinical Genetics, 1987
- De novo X;Y translocation associated with imperforate anus and retinal pigmentary abnormalitiesAmerican Journal of Medical Genetics, 1987
- Two cases of X/autosome translocation in females with incontinentia pigmentiHuman Genetics, 1985
- The human Y chromosome.Journal of Medical Genetics, 1985
- Inherited Chondrodysplasia Punctata Due to a Deletion of the Terminal Short Arm of an X ChromosomeNew England Journal of Medicine, 1984
- Orbital cyst in addition to congenital cerebral and focal dermal malformations: a new entityClinical Genetics, 1984
- Focal Dermal Hypoplasia SyndromeArchives of Dermatology, 1970